Hane Lee

Hane Lee, PhD


Hane Lee, PhD is an Assistant Professor in the Department of Pathology and Laboratory Medicine in the David Geffen School of Medicine at UCLA. As part of the UCLA Clinical Genomics Center, Dr. Lee specializes in molecular genetics and genomics and performs analysis and interpretation for Clinical Exome Sequencing test. Dr. Lee completed her undergraduate study at the Korea Advanced Institute of Science and Technology (KAIST) and came to UCLA to earn PhD in Human Genetics. Dr. Lee joined the Pathology department in 2011 as an Assistant Researcher and was appointed as an Assistant Professor in 2014.

Selected Publications

  • Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF. Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders. JAMA. 2014 Oct 18. doi: 10.1001/jama.2014.14604. [Epub ahead of print]
  • Fogel BL, Lee H, Deignan JL, Strom SP, Kantarci S, Wang X, Quintero-Rivera F, Vilain E, Grody WW, Perlman S, Geschwind DH, Nelson SF.Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. JAMA Neurol. 2014 Oct 1;71(10):1237-46.
  • Strom SP, Lozano R, Lee H, Dorrani N, Mann J, O’Lague PF, Mans N, Deignan JL, Vilain E, Nelson SF, Grody WW, Quintero-Rivera F. De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. BMC Med Genet. 2014 May 1;15:49.
  • Klein S, Lee H, Ghahremani S, Kempert P, Ischander M, Teitell MA, Nelson SF, Martinez-Agosto JA. Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome. J Med Genet. 2014 May;51 (5):294-302.
  • Lee H, Lin MC, Kornblum HI, Papazian DM, Nelson SF. Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation. Hum Mol Genet. 2014 Feb 18.
  • Strom SP, Lee H, Das K, Vilain E, Nelson SF, Grody WW, Deignan JL. Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory. Genet Med. 2014 Jan 9.
  • Arboleda VA, Lee H, Sanchez FJ, Delot EC, Sandberg DE, Grody WW, Nelson SF, and Vilain E, Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development. Clin Genet, 2013. 83(1): p. 35-43.
  • Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, and Campbell KP, ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet, 2012. 44(5): p. 575-80.
  • Shi H, Moriceau G, Kong X, Lee MK, Lee H, Koya RC, Ng C, Chodon T, Scolyer RA, Dahlman KB, Sosman JA, Kefford RF, Long GV, Nelson SF, Ribas A, and Lo RS, Melanoma whole-exome sequencing identifies (V600E)B-RAF amplification-mediated acquired B-RAF inhibitor resistance. Nat Commun, 2012. 3: p. 724.
  • Lee H and Nelson SF, Rethinking clinical practice: clinical implementation of exome sequencing. Personalized Medicine, 2012. 9(8): p. 785-787.
  • Lee H, Graham JM, Jr., Rimoin DL, Lachman RS, Krejci P, Tompson SW, Nelson SF, Krakow D, and Cohn DH, Exome sequencing identifies PDE4D mutations in acrodysostosis. Am J Hum Genet, 2012. 90(4): p. 746-51.
  • Bonnard C, Strobl AC, Shboul M, Lee H, Merriman B, Nelson SF, Ababneh OH, Uz E, Guran T, Kayserili H, Hamamy H, and Reversade B, Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. Nat Genet, 2012. 44(6): p. 709-13.
  • Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Delot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergada I, Dell’Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, and Vilain E, Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet, 2012. 44(7): p. 788-92.
  • Sathirapongsasuti JF, Lee H, Horst BA, Brunner G, Cochran AJ, Binder S, Quackenbush J, and Nelson SF, Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV. Bioinformatics, 2011. 27(19): p. 2648-54.
  • Goudie DR, D’Alessandro M, Merriman B, Lee H, Szeverenyi I, Avery S, O’Connor BD, Nelson SF, Coats SE, Stewart A, Christie L, Pichert G, Friedel J, Hayes I, Burrows N, Whittaker S, Gerdes AM, Broesby-Olsen S, Ferguson-Smith MA, Verma C, Lunny DP, Reversade B, and Lane EB, Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. Nat Genet, 2011. 43(4): p. 365-9.
  • Tian J, Ling L, Shboul M, Lee H, O’Connor B, Merriman B, Nelson SF, Cool S, Ababneh OH, Al-Hadidy A, Masri A, Hamamy H, and Reversade B, Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling. Am J Hum Genet, 2010. 87(6): p. 768-78.
  • Nazarian R, Shi H, Wang Q, Kong X, Koya RC, Lee H, Chen Z, Lee MK, Attar N, Sazegar H, Chodon T, Nelson SF, McArthur G, Sosman JA, Ribas A, and Lo RS, Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation. Nature, 2010. 468(7326): p. 973-7.
  • Lee H, Marvin AR, Watson T, Piggot J, Law JK, Law PA, Constantino JN, and Nelson SF, Accuracy of phenotyping of autistic children based on Internet implemented parent report. Am J Med Genet B Neuropsychiatr Genet, 2010. 153B(6): p. 1119-26.
  • Clark MJ, Homer N, O’Connor BD, Chen Z, Eskin A, Lee H, Merriman B, and Nelson SF, U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line. PLoS Genet, 2010. 6(1): p. e1000832.
  • Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O’Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hausser I, Budde B, Nurnberg G, Nurnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, and Kornak U, Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet, 2009. 41(9): p. 1016-21.
  • Lee H, O’Connor BD, Merriman B, Funari VA, Homer N, Chen Z, Cohn DH, and Nelson SF, Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing. BMC Genomics, 2009. 10: p. 646.
  • Lee H, Jen JC, Cha YH, Nelson SF, and Baloh RW, Phenotypic and genetic analysis of a large family with migraine-associated vertigo. Headache, 2008. 48(10): p. 1460-7.
  • Lee H, Sininger L, Jen JC, Cha YH, Baloh RW, and Nelson SF, Association of progesterone receptor with migraine-associated vertigo. Neurogenetics, 2007. 8(3): p. 195-200.
  • Lacombe A, Lee H, Zahed L, Choucair M, Muller JM, Nelson SF, Salameh W, and Vilain E, Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. Am J Hum Genet, 2006. 79(1): p. 113-9. *Co-first author
  • Lee H, Jen JC, Wang H, Chen Z, Mamsa H, Sabatti C, Baloh RW, and Nelson SF, A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity. Hum Mol Genet, 2006. 15(2): p. 251-8.
  • Lee H, Wang H, Jen JC, Sabatti C, Baloh RW, and Nelson SF, A novel mutation in KCNA1 causes episodic ataxia without myokymia. Hum Mutat, 2004. 24(6): p. 536.